Porphyria cutanea tarda
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Synopsis
PCT is the most common porphyria. Although the majority of cases are due to acquired or inherited uroporphyrinogen decarboxylase (UROD) deficiency, familial inheritance without a UROD mutation has also been described.
PCT is categorized into 3 types:
- Type 1 – Acquired, sporadic. Accounts for approximately 80% of cases. Factors causing type 1 PCT include iron overload, alcohol use disorder, smoking, hepatitis C virus (HCV) infection, use of certain drugs, and HIV infection.
- Type 2 – Autosomal dominant UROD mutation with incomplete penetrance. Accounts for approximately 20% of cases. Individuals with UROD mutations who do not have clinical symptoms are asymptomatic carriers.
- Type 3 – Familial mutation of genes other than UROD.
Susceptibility factors include use of alcohol and estrogen, smoking, chronic HCV infection, HIV infection (may be related to concomitant HCV infection), and UROD and hereditary hemochromatosis gene mutations. PCT has also been reported in conditions that cause oxidative liver damage (ie, diabetes mellitus and hepatic steatosis), pregnancy, advanced renal failure on dialysis (with associated iron overload), and myeloproliferative disorders. PCT has been reported in outbreaks with halogenated hydrocarbon exposure.
In both acquired and inherited PCT, reduction in UROD enzyme activity to 20% of normal is required before clinical manifestations occur.
Once UROD activity is below 20%, porphyrins (mostly uroporphyrin) accumulate in the liver and the skin. Soret band (400-410 nm) of the visible spectrum activates porphyrins within cells and capillaries to enter an excited state. Photoactivated porphyrin subsequently releases protons to oxygen, and the resultant reactive oxygen species causes tissue damage. This manifests clinically as skin fragility, blistering, hypertrichosis, scarring, and sclerodermoid plaques. Photo-onycholysis may be seen. Patients may also notice urine discoloration.
There is an increased risk of hepatocellular carcinoma in patients with PCT, particularly those over 50 years of age; thus, routine monitoring is needed, particularly for those with other risk factors including cirrhosis, hepatitis C, or alcohol use disorder.
Codes
ICD10CM:E80.1 – Porphyria cutanea tarda
SNOMEDCT:
61860000 – Porphyria cutanea tarda
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Differential Diagnosis & Pitfalls
- Pseudoporphyria secondary to certain drugs (eg, NSAIDs, vitamin A derivatives, immunosuppressants, and chemotherapeutic agents) – Patients have normal porphyrin levels.
- Variegate porphyria (VP) – May present with skin findings identical to PCT, but patients are also at risk for acute porphyric neurologic crises not seen in PCT. VP is more common in individuals of South African descent and may be differentiated from PCT by the pattern of porphyrins in urine, plasma, and fecal specimens (ratio of urine uroporphyrin to coproporphyrin is approximately 1:1 in VP but up to 8:1 in PCT).
- Hepatoerythropoietic porphyria – Childhood onset with rare autosomal recessive uroporphyrin decarboxylase deficiency.
- Hereditary coproporphyria
- Hydroa vacciniforme
- Bullous lupus erythematosus
- Drug-induced photosensitive reaction
- Epidermolysis bullosa acquisita
- Systemic amyloidosis – Can present with acral erosions that heal with milia.
- Acute dermatomyositis
- Polymorphous light eruption
- Morphea
- Scleroderma
- Contact dermatitis
- Bullous pemphigoid
- Bullous fixed drug eruption
- Bullous arthropod bites
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Therapy
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Drug Reaction Data
Below is a list of drugs with literature evidence indicating an adverse association with this diagnosis. The list is continually updated through ongoing research and new medication approvals. Click on Citations to sort by number of citations or click on Medication to sort the medications alphabetically.Subscription Required
References
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Last Reviewed:02/06/2020
Last Updated:01/20/2022
Last Updated:01/20/2022
Porphyria cutanea tarda